Labrum, 2009: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
-Gait ataxia (interictal)
Ataxia Ataxia, limb Gait ataxia Nausea Emotional stress trigger Headache -Gait ataxia (ictal) Ataxia (ictal) -Limb ataxia (interictal) Nausea (ictal) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Square wave jerks
-Gait ataxia (ictal) Nystagmus Dysarthria (ictal) Gait ataxia Nystagmus (interictal) Dysarthria Headache Ataxia Ataxia (ictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Vertigo (ictal)
Dysarthria (ictal) Headache Dysarthria Nystagmus Nystagmus (interictal) -Gait ataxia (interictal) Ataxia, limb Vomiting -Gait ataxia (ictal) Ataxia (ictal) Headache (ictal) Ataxia, limb (ictal) Vertigo Vomiting (ictal) Square wave jerks Ataxia Gait ataxia Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Ataxia (ictal)
Dysarthria -Gait ataxia (ictal) Nausea (ictal) Gait ataxia Nystagmus Dysarthria (ictal) Ataxia Nausea Emotional stress trigger Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
Dysarthria (ictal)
Dysarthria (interictal) Ataxia Ataxia (ictal) Nystagmus Dysarthria Headache -Gait ataxia (ictal) Diplopia Diplopia (ictal) Headache (ictal) Emotional stress trigger Nystagmus (interictal) Gait ataxia Fatigue trigger Ataxia, limb -Gait ataxia (interictal) Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Nausea (ictal)
Nausea Vertigo (ictal) Vertigo -Gait ataxia (ictal) Ataxia Ataxia, limb Gait ataxia Nystagmus (ictal) Seizures Nystagmus Vomiting Ataxia (ictal) Cerebellar atrophy -Limb ataxia (interictal) Vomiting (ictal) Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
-Gait ataxia (ictal)
Ataxia Nystagmus Vomiting -Gait ataxia (interictal) Vomiting (ictal) Nystagmus (interictal) Ataxia (ictal) Gait ataxia Show more (+6) |
n.a.
|